Endocrine Abstracts

Introduction: Type B insulin resistance syndrome is an autoimmune disorder characterized by the production of autoantibodies against the insulin receptor. It leads to glucose metabolism disorders, extreme insulin resistance, hyperandrogenism and is associated with other features of autoimmunity.Case report: A 27-year-old man, with a 2-years history of psoriasis, was admitted to our Department because of loss of weight (20 kg in 1 year) and fatigue. He al...

The study group consists of 159 cases of chronic autoimmune thyroiditis (CAT) (age =40.48±15.22 years; F/M=156/3) distributed in 3 groups after the morpho-functional criteria: CAT with goiter – 48.43% cases (F/M=77/0); atrophic CAT – 33.33% cases (F/M=52/1); asymptomatic CAT – 18.24% cases (F/M=27/2). The thyroid ultrasonography allowed the thyroid volume measurement and the evaluation of the parenchyma echogenicity. Most of the cases presented a moderate (...

Aim: To study the etiology and the treatment of the non endemic goiter, in our region.Material and methods: The study group consisted of 67 children (F/M: 48/19; age: 4–17 years old) with non endemic goiter admitted in our hospital during the period, 2003–2008. The diagnostic procedures were represented by: the clinical examination (including the anthropometric measures and pubertal stages after Tanner’s criteria), laboratory data (serum c...

Introduction: Zellweger Spectrum Disorders, one of the two groups of Peroxisome Biogenesis Disorders (PBD-ZSD) are rare, complex autosomal recessive genetic anomalies characterised by mutations in any of the PEX genes which are responsible for defective peroxisomes activity. The peroxisomes are organelles that play a primary role mainly in the lipid metabolism of almost all the cells of the body, hence their defective biosynthesis, assembly or biochemical functions turn PBD-ZS...

Background: Mitotane is regularly used in patients with adrenocortical carcinoma (ACC) adjuvantly, in patients with high risk of recurrence, and in advanced disease. Multiple effects of mitotane result in adrenal insufficiency in virtually all patients. However, it is unclear how frequently the hypothalamic-pituitary-adrenal (HPA) axis is recovering after treatment discontinuation. Here, we aim to investigate the HPA axis after treatment with mitotane.Me...

Aim: To show the etiology of thyromegaly in our region to asses the rationale treatment and follow up.Material and methods: Between 2005 and 2010, we have studied the prevalence and etiologic profile of the children with thyromegaly admitted in the Endocrinology Department of our hospital. The working protocol included: weight and length birth, gestational age, auxological parameters and pubertal stages after Tanner’s criteria, morphogram, laborator...

Background: Short stature can be a sign of a wide variety of pathologic conditions or inherited disorders.Aim: To show the etiology of short stature in our region in order to asses the rationale treatment and genetic advice.Material and methods: Between January 2004 and December 2009, we have studied the prevalence and etiologic profile of the children admitted in the Endocrinology Department of Children’s Clinical Hospital Ti...

Background: Serum liquid chromatography–tandem mass spectrometry (LC–MS/MS) steroid profiling is used for the diagnosis of adrenocortical carcinoma (ACC). Guidelines recommend endocrine work-up in addition to radiological imaging for follow-up in ACC, but data on this topic are scarce.Aim: To retrospectively investigate an earlier detection of a recurrent or progressive disease by using endocrine follow-up with LC–MS/MS measurements in com...

Introduction: Adrenocortical carcinoma (ACC) is a rare endocrine malignancy arising from the adrenal cortex often with unexpected biological behavior. It can occur at any age, with two peaks of incidence: in the first and between fifth and seventh decades of life. Although ACC are mostly hormonally active, precursors and metabolites may be also produced by dedifferentiated and immature malignant cells.Case report: We report a rare and challenging case of...

Introduction: Autosomal Dominant Hypocalcemia (ADH) presents with low calcium and high phosphorus levels due to hypoparathyroidism. It is categorized into type 1, resulting from gain-of-function mutations in the calcium-sensing receptor (CASR), and type 2, caused by activating mutations in GNA11, a key mediator in CASR signaling. Our contribution involves reporting a rare case of pediatric ADH 2.Case presentation: We present the case of a 9-year-old boy ...